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    Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
    Indian J Dermatol 2017 Jul-Aug;62(4):422-426
    School of Life Sciences, Division of Biological Chemistry and Drug Discovery, Dermatology and Genetic Medicine, University of Dundee, Dundee, UK.
    Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Read More

    Proteomic profiling of Pachyonychia congenita plantar callus.
    J Proteomics 2017 Aug 23;165:132-137. Epub 2017 Jun 23.
    Proteomics Core Facility, University of California, Davis, CA.
    Callus samples from the ball and the arch of the foot, collected on tape circles, were compared by shotgun proteomic profiling. Pachyonychia congenita subjects were sampled who exhibited a mutation in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, and the proteins were digested and analyzed by tandem mass spectrometry. In comparison with samples from unaffected control subjects, those from subjects with KRT6A or KRT16 mutations displayed the most differences in profile from normal, while those from subjects with KRT6C or KRT17 mutations showed few differences from normal. Read More

    Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.
    Br J Dermatol 2017 May 27;176(5):1144-1147. Epub 2017 Mar 27.
    Pachyonychia Congenita Project, Salt Lake City, UT, U.S.A.
    The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S. Read More

    Steatocystoma multiplex suppurativa: case report of a rare condition.
    An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):51-53
    Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.
    Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. Read More

    Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
    Br J Dermatol 2017 May 2;176(5):1345-1350. Epub 2017 Apr 2.
    Department of Dermatology, University Hospital Crosshouse, Kilmarnock, U.K.
    The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Read More

    [Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].
    Pan Afr Med J 2016 1;24:183. Epub 2016 Jul 1.
    Service de Néphrologie, CHU Mohamed VI, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc.
    Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. Read More

    Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.
    Clin Exp Dermatol 2016 Dec 27;41(8):884-889. Epub 2016 Oct 27.
    Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.
    Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. Read More

    Peripheral neuropathic changes in pachyonychia congenita.
    Pain 2016 Dec;157(12):2843-2853
    aDepartment of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA bPachyonychia Congenita Project, Salt Lake City, UT, USA cDepartment of Dermatology, University of Utah Health Sciences Center, Salt Lake City, UT, USA dDepartment of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD, USA eBlizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom fDepartments of Neurosurgery, Biological Chemistry, Neuroscience, and the Neurosurgery Pain Research Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corresponding locations in 10 control subjects. Tissue was processed to visualize intraepidermal nerve fibers (IENF) (PGP9. Read More

    Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.
    J Laryngol Otol 2017 Jul 20;131(S2):S53-S56. Epub 2016 Oct 20.
    Department of Paediatric Otolaryngology,Starship Children's Hospital,Auckland,New Zealand.
    Background: Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction.

    Methods: A case report is presented and the findings of a literature review are reported. Read More

    Pachyonychia congenita with late onset (PC tarda).
    Indian Dermatol Online J 2016 Jul-Aug;7(4):278-80
    Department of Dermatology, Maharajah's Institute of Medical Sciences, Nellimarla, Andhra Pradesh, India.
    Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. Read More

    Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
    Br J Dermatol 2017 Jan 24;176(1):270-274. Epub 2016 Sep 24.
    Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.

    Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.
    J Clin Invest 2016 Jun 16;126(6):2356-66. Epub 2016 May 16.
    Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by oxidative stress in footpad skin of Krt16-/- mice and correlates with an inability of keratinocytes to sustain nuclear factor erythroid-derived 2 related factor 2-dependent (NRF2-dependent) synthesis of the cellular antioxidant glutathione (GSH). Read More

    Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex.
    J Cosmet Laser Ther 2016 Nov 19;18(7):364-366. Epub 2016 Jul 19.
    b Department of Dermatology , University of California Irvine , Irvine , CA , USA.
    Steatocystoma multiplex is a well-recognized condition in which subjects develop dermal cysts generally inherited in an autosomal dominant fashion, though these can occur sporadically. This case report describes the successful treatment of a 51-year-old woman with steatocystomata limited to the face, who after two treatments with a fractionated ablative carbon dioxide laser remained free of cysts for three years. We conclude that this treatment should be considered as an efficient and effective treatment option for patients with steatocystoma multiplex. Read More

    Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy.
    A A Case Rep 2016 May;6(10):305-7
    From the *Department of Anesthesiology and Pain Medicine, UT Houston, Texas Medical Center, Houston, Texas; †Arkansas Children's Hospital, Little Rock, Arkansas; and ‡Texas Children's Hospital, Houston, Texas.
    We report the case of an 11-year-old girl who presented to our multidisciplinary pain center with the chief complaint of chronic bilateral foot pain because of a rare congenital keratin disorder. This patient had been diagnosed with pachyonychia congenita, an extremely rare genetic disorder primarily affecting the skin and nails. The child had bilateral foot pain for years because of the characteristic blisters and calluses on the soles of her feet. Read More

    Realizing Our Potential in Biobanking: Disease Advocacy Organizations Enliven Translational Research.
    Biopreserv Biobank 2016 Aug 8;14(4):314-8. Epub 2016 Apr 8.
    8 CFIDS Association of America, Charlotte, North Carolina.
    Biobanks are increasingly powerful tools used in translational research, and disease advocacy organizations (DAOs) are making their presence known as research drivers and partners. We examined DAO approaches to biobanking to inform how the enterprise of biobanking can grow and become even more impactful in human health. In this commentary, we outline overarching approaches from successful DAO biobanks. Read More

    Pachyonychia Congenita Type 1: Case Report and Review of the Literature.
    Indian J Dermatol 2016 Mar-Apr;61(2):196-9
    Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India.
    The case of an 8-year-old boy is hereby reported, who presented with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules all over the body. The features were consistent with a diagnosis of pachyonychia congenita type 1. The case is being reported for its rarity. Read More

    Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
    Pediatr Dermatol 2016 May 4;33(3):337-42. Epub 2016 Apr 4.
    Flinders Medical Centre, Adelaide, South Australia, Australia.
    Background: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17.

    Objectives: Living with Pachyonychia Congenita can be isolating. Read More

    p53 Is a Direct Transcriptional Repressor of Keratin 17: Lessons from a Rat Model of Radiation Dermatitis.
    J Invest Dermatol 2016 Mar 30;136(3):680-9. Epub 2015 Dec 30.
    Institute of Life Sciences, Fuzhou University, Fuzhou, Fujian, China. Electronic address:
    The intermediate filament protein keratin 17 (Krt17) shows highly dynamic and inducible expression in skin physiology and pathology. Because Krt17 exerts physiologically important functions beyond providing structural stability to keratinocytes whereas abnormal Krt17 expression is a key feature of dermatoses such as psoriasis and pachyonychia congenita, the currently unclear regulation of Krt17 expression needs to be better understood. Using a rat model of radiation dermatitis, we report here that Krt17 expression initially is down-regulated but later is strongly up-regulated by ionizing radiation. Read More

    Painful plantar keratoderma and onychodystrophy in caucasian young woman.
    Dermatol Online J 2015 Oct 16;21(10). Epub 2015 Oct 16.
    Hospital Universitario Doctor Peset.
    Pachonychia congenita is an uncommon genodermatosis, classified among the disorders of keratinization and caused by mutation of certain keratin genes. The characteristic clinical triad is onychodystrophy, keratoderma, and plantar pain. In addition, the patients may present with epidermal cysts, steatocystomas, leukokeratosis, and deciduous teeth. Read More

    Jadassohn Lewandowsky Syndrome: A Rare Entity.
    Indian J Dermatol 2015 Sep-Oct;60(5):524
    Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.
    Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth. Read More

    Imaging Functional Nucleic Acid Delivery to Skin.
    Methods Mol Biol 2016 ;1372:1-24
    Molecular Imaging Program at Stanford (MIPS), E150 Clark Center, Stanford University School of Medicine, 318 Campus Drive, Stanford, CA, 94305, USA.
    Monogenic skin diseases arise from well-defined single gene mutations, and in some cases a single point mutation. As the target cells are superficial, these diseases are ideally suited for treatment by nucleic acid-based therapies as well as monitoring through a variety of noninvasive imaging technologies. Despite the accessibility of the skin, there remain formidable barriers for functional delivery of nucleic acids to the target cells within the dermis and epidermis. Read More

    Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.
    Case Rep Dermatol 2015 May-Aug;7(2):220-6. Epub 2015 Aug 19.
    Division of Dermatology, McGill University Health Centre, Montreal, Que., Canada.
    Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Read More

    Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases.
    Dermatol Ther 2016 Jan-Feb;29(1):32-6. Epub 2015 Oct 7.
    Department of Dermatology, La Paz University Hospital, Madrid, Spain.
    Pachyonychia congenita (PC) is a rare genodermatosis caused by a mutation in keratin genes, which can lead to hypertrophic nail dystrophy and focal palmoplantar keratoderma (predominantly plantar), amongst other manifestations. Painful blisters and callosities, sometimes exacerbated by hyperhidrosis, are major issues that can have a significant impact on patient quality of life. Many alternative treatments for this condition have been applied with variable and partial clinical response, but a definitive cure for this disease has yet to be discovered. Read More

    Can skin disease cause neuropathic pain? A study in pachyonychia congenita.
    Clin Exp Dermatol 2016 Jan 11;41(1):26-33. Epub 2015 Sep 11.
    Pain Management Research, Solihull Hospital, Heartlands NHS Foundation Trust, Solihull, UK.
    Introduction: Pachyonychia congenita (PC) is a rare skin disorder caused by an autosomal dominant mutation in one of five genes encoding keratin (K6a, K6b, K6c, K16 or K17; each defining one PC subtype). Pain is a prominent symptom, but its severity and type are poorly characterized.

    Methods: In total, 35 genotyped US patients with PC consented to clinical assessment including the quality of life (QoL) questionnaire EQ-5D-3L, the Brief Pain Inventory (BPI) and painDETECT. Read More

    Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls.
    Curr Gene Ther 2015 ;15(5):503-10
    Inserm/UPMC UMR_S974, CNRS FRE3617, Institut de Myologie, Paris, France.
    RNA interference (RNAi) is a conserved mechanism for post-transcriptional gene silencing mediated by messenger RNA (mRNA) degradation. RNAi is commonly induced by synthetic siRNA or shRNA which recognizes the targeted mRNA by base pairing and leads to target-mRNA degradation. RNAi may discriminate between two sequences only differing by one nucleotide conferring a high specificity of RNAi for its target mRNA. Read More

    Non-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.
    Mol Imaging Biol 2016 Feb;18(1):34-42
    TransDerm Inc., 2161 Delaware Ave., Santa Cruz, CA, 95060, USA.
    Purpose: Small interfering RNAs (siRNAs) specifically and potently inhibit target gene expression. Pachyonychia congenita (PC) is a skin disorder caused by mutations in genes encoding keratin (K) 6a/b, K16, and K17, resulting in faulty intermediate filaments. A siRNA targeting a single nucleotide, PC-relevant mutation inhibits K6a expression and has been evaluated in the clinic with encouraging results. Read More

    Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.
    Mol Med Rep 2015 Oct 8;12(4):5072-6. Epub 2015 Jul 8.
    Department of Dermatology, Hainan Provincial Hospital of Skin Disease, Haikou, Hainan 570206, P.R. China.
    Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin‑colored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a four‑generation Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. Read More

    A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.
    Indian J Dermatol Venereol Leprol 2015 Jul-Aug;81(4):385-7
    Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
    Unlabelled: Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p. Read More

    [Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].
    Gac Med Mex 2015 Mar-Apr;151(2):270-2
    Universidad de Los Andes, Mérida, Venezuela.
    Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-o/d female patient with the missense mutation in KRT17 gene (c. Read More

    Association of copeptin and cortisol in newly diagnosed multiple sclerosis patients.
    J Neuroimmunol 2015 May 11;282:21-4. Epub 2015 Mar 11.
    Department of Neuroendocrinology, Centre of Postgraduate Medical Education, Marymoncka 99/103, 01-813 Warsaw, Poland. Electronic address:
    Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system. Obesity may increase the risk of developing MS. The aim of this study was to evaluate copeptin and cortisol plasma levels in newly diagnosed untreated MS patients and to determine whether copeptin and cortisol are related to the patients' clinical statuses. Read More

    Olmsted syndrome: clinical, molecular and therapeutic aspects.
    Orphanet J Rare Dis 2015 Mar 17;10:33. Epub 2015 Mar 17.
    INSERM UMR 1163, Laboratory of Genetic skin diseases, Imagine Institute, 2nd floor, 24 bld du Montparnasse, 75015, Paris, France.
    Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. Read More

    Steatocystoma multiplex with hair shaft abnormalities.
    J Dermatol 2015 May 21;42(5):521-3. Epub 2015 Mar 21.
    Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
    Steatocystoma multiplex (SM) is an unusual benign disorder of the pilosebaceous duct characterized by multiple cysts with little or no nail and hair involvement. We report a 30-year-old woman with multiple cystic nodules located on the neck, axillae and forearms as well as patchy scalp alopecia. Histopathological examination of the lesions was diagnostic of SM. Read More

    PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.
    J Cutan Med Surg 2015 Jan-Feb;19(1):57-65. Epub 2015 Jan 1.
    Division of Dermatology, Department of Medicine, University of Alberta, Edmonton, ABPachyonychia Congenita Project, Salt Lake City, UTCentre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UKDivision of Dermatology, Department of Medicine, University of Saskatchewan, Saskatoon, SK
    Background: Pachyonychia congenita (PC) is a rare but often debilitating, dominantly inherited disorder. New treatments require more accurate instruments for evaluating changes in the quality of life in these patients.

    Objectives: This study was undertaken to develop and validate a quality of life questionnaire for PC patients (PCQoL). Read More

    Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology.
    J Am Acad Dermatol 2015 May 11;72(5):879-89. Epub 2015 Mar 11.
    Dermatology, Stanford University School of Medicine, Palo Alto, California; Pediatrics, Stanford University School of Medicine, Palo Alto, California; Pediatric Dermatology, Stanford University School of Medicine, Palo Alto, California; Stanford University School of Medicine, Palo Alto, California. Electronic address:
    Significant developments in the use of mammalian target of rapamycin (mTOR) inhibitors (mTORIs) as immunosuppressant and antiproliferative agents have been made. Recent advances in the understanding of the mTOR signaling pathway and its downstream effects on tumorigenesis and vascular proliferation have broadened the clinical applications of mTORIs in many challenging disorders such as tuberous sclerosis complex, pachyonychia congenita, complex vascular anomalies, and inflammatory dermatoses. Systemic mTORI therapy has shown benefits in these areas, but is associated with significant side effects that sometimes necessitate drug holidays. Read More

    A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
    Int J Dermatol 2015 Mar 29;54(3):334-7. Epub 2013 Oct 29.
    Ankara Numune Education and Research Hospital, Dermatology Department, Ankara, Turkey.
    A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. Read More

    Gene expression profiling in pachyonychia congenita skin.
    J Dermatol Sci 2015 Mar 14;77(3):156-65. Epub 2015 Jan 14.
    TransDerm Inc., Santa Cruz, CA 95060, USA. Electronic address:
    Background: Pachyonychia congenita (PC) is a skin disorder resulting from mutations in keratin (K) proteins including K6a, K6b, K16, and K17. One of the major symptoms is painful plantar keratoderma. The pathogenic sequelae resulting from the keratin mutations remain unclear. Read More

    Keratins and skin disease.
    Cell Tissue Res 2015 Jun 27;360(3):583-9. Epub 2015 Jan 27.
    Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
    Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell-cell adhesion. Read More

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